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Case Reports
. 2013 Nov-Dec;88(6 Suppl 1):203-5.
doi: 10.1590/abd1806-4841.20132199.

Birt-Hogg-Dubé syndrome

André Lencastre  1 , Pedro Ponte  1 , Margarida Apetato  1 , Luis Nunes  2 , Sara Lestre  1
Affiliations
Case Reports

Birt-Hogg-Dubé syndrome

André Lencastre et al. An Bras Dermatol. 2013 Nov-Dec.

Abstract
in English, Portuguese

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.

Uma mulher de 45 anos com história de carcinoma renal foi observada por pápulas cor da pele, faciais, cervicais e tronculares. Referia história familiar de achados cutâneos semelhantes e irmão com episódios repetidos de pneumotórax. Identificaram-se múltiplos quistos pulmonares por tomografia computorizada. Uma biópsia cutânea revelou fibroma perifolicular. O diagnóstico clínico de síndrome de Birt-Hogg-Dubé (BHDS) foi contudo corroborado pela identificação de uma nova mutação frameshift c.573delGAinsT (p.G191fsX31) em heterozigotia no exão 6 do gene da foliculina. A presença de múltiplos e típicos tumores benignos do folículo piloso, realça o papel do dermatologista no diagnóstico desta rara genodermatose, que está associada a um risco aumentado de tumores de células renais e cistos pulmonares, exigindo seguimento e aconselhamento pessoal e familiar.

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Conflict of interest statement

Conflict of interest: None

Figures

FIGURE 1
FIGURE 1
Detail of the left aspect of the face where skin-colored papules are observed in the nasal and malar region
FIGURE 2
FIGURE 2
Detail of epithelioid cell nests and perifollicular dermal fibrosis (H&Ex100)
FIGURE 3
FIGURE 3
Automatic sequencing of exon 6 of the FLCN gene (the arrow shows the point where the frameshift mutation started)
See this image and copyright information in PMC

References

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